ArticlePediatric blood & cancer2012
Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors.
Article in Pediatric blood & cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 95 citations in OpenAlex.
- MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism.Nature genetics · 2016Pooled it
- Atypical teratoid rhabdoid tumor with extraneural metastases: a case report with genomic analysis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Clinical and Molecular Characteristics of 100 Atypical Teratoid Rhabdoid Tumor Patients from Low- and Middle-Income Countries.Cancers · 2025Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Mucin 16-Directed Therapy in Pediatric Sarcomas: Case Evidence of Ubamatamab Efficacy in Epithelioid Sarcoma and Its Implications for Other Sarcoma Subtypes.JCO precision oncology · 2025Article
- Modeling human brain rhabdoid tumor by inactivating tumor suppressor genes in induced pluripotent stem cells.Bioactive materials · 2024Article
- Current advances in immunotherapy for atypical teratoid rhabdoid tumor (ATRT).Neuro-oncology practice · 2023Review
- Atypical teratoid rhabdoid tumor (ATRT): disease mechanisms and potential drug targets.Expert opinion on therapeutic targets · 2022Article
- Current and Emerging Therapeutic Approaches for Extracranial Malignant Rhabdoid Tumors.Cancer management and research · 2022Review
- Human SNF5 arming of double-deleted vaccinia virus shows oncolytic and cytostatic activity against central nervous system atypical teratoid/rhabdoid tumor cells.Cancer gene therapy · 2021Article
- A phase I trial of the CDK 4/6 inhibitor palbociclib in pediatric patients with progressive brain tumors: A Pediatric Brain Tumor Consortium study (PBTC-042).Pediatric blood & cancer · 2021Article
- Delta-24-RGD, an Oncolytic Adenovirus, Increases Survival and Promotes Proinflammatory Immune Landscape Remodeling in Models of AT/RT and CNS-PNET.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.Frontiers in oncology · 2021Review
- Rhabdoid Tumors Are Sensitive to the Protein-Translation Inhibitor Homoharringtonine.Clinical cancer research : an official journal of the American Association for Cancer Research · 2020Article
- Advancing biology-based therapeutic approaches for atypical teratoid rhabdoid tumors.Neuro-oncology · 2020Article
- Age and DNA methylation subgroup as potential independent risk factors for treatment stratification in children with atypical teratoid/rhabdoid tumors.Neuro-oncology · 2020Article
- Genomic and Immunologic Characterization of INI1-Deficient Pediatric Cancers.Clinical cancer research : an official journal of the American Association for Cancer Research · 2020Article
- Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers.International journal of molecular sciences · 2020Review
- Chemotherapy Curability in Leukemia, Lymphoma, Germ Cell Tumors and Gestational Malignancies: A Reflection of the Unique Physiology of Their Cells of Origin.Frontiers in genetics · 2020Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundRhabdoid tumors (also called atypical teratoid/rhabdoid tumor (AT/RT) in the brain), are highly malignant, poor prognosis lesions arising in the kidneys, soft tissues, and central nervous system. Targeted therapy in this disease would benefit from advanced technologies detecting relevant actionable mutations. PROCEDURE: Here we report on the evaluation of 25 tumors, all with known SMARCB1/INI1 alterations, for the presence of 983 different mutations in 115 oncogenes and tumor-suppressor genes using OncoMap, a mass spectrometric method of allele detection.
resultsOther than mutations in SMARCB1, our results identified a single activating mutation in NRAS and complete absence of oncogenic mutations in all other genes tested.
conclusionThe absence of mutations in canonical pathways critical for development and progression of adult cancers suggests that distinct mechanisms drive these highly malignant pediatric tumors. This may limit the therapeutic utility of available targeted therapies and require a refocusing toward developmental and epigenetic pathways.
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